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Extensive Mongolian Spots and Lysosomal Storage Diseases

2015; Elsevier BV; Volume: 170; Linguagem: Inglês

10.1016/j.jpeds.2015.11.009

1097-6833

Aviva Mimouni-Bloch, Yael Finezilber, Michal Rothschild, Annick Raas‐Rothschild,

Glycogen Storage Diseases and Myoclonus

A 3-year-old boy was evaluated at the pediatric developmental center for speech delay. He suffered from recurrent acute otitis media, upper airway obstruction, and hearing loss; he had surgeries for ventilating tubes insertion and adenoidectomy, and also herniotomy; he presented with motor delay, expressive language delay, mild coarse facial features, hepatosplenomegaly, and extensive Mongolian spots on the lumbosacral region (Figure). Biochemical iduronate sulfatase activity was compatible with the diagnosis of mucopolysaccharidosis type II ([MPSII] or Hunter syndrome; iduronate sulfatase activity 2 μmol/l/h; control 4 μmol/l/h). Sequencing of the iduronate sulfatase gene revealed the c.235G > A [p.A85T] mutation. His 10-month-old brother was diagnosed by molecular analysis as affected as well. The baby had an umbilical hernia and extensive Mongolian spots as well. Molecular testing of the mother confirmed that she was a carrier of this mutation. MPSII is a variable progressive multi-systemic disorder. Clinical features include facial dysmorphism, hepatosplenomegaly, recurrent respiratory and ear infections, short stature, contractures, hearing loss, and cardiomyopathy.1Giugliani R. Villarreal M.L. Valdez C.A. Hawilou A.M. Guelbert N. Garzón L.N. et al.Guidelines for diagnosis and treatment of hunter syndrome for clinicians in Latin America.Genet Mol Biol. 2014; 37: 315-329Crossref PubMed Scopus (39) Google Scholar Mutations of the iduronate sulfatase gene, which map to the X chromosome, cause deficiency or absence of the enzyme iduronate-2 sulfatase activity. This deficiency is reported to be linked to the accumulation of undegraded glycosaminoglycans within lysosomes of various organs and tissues. Ochiai et al described 52 males with MPSII who almost all had extensive and deep-blue persistent Mongolian spots.2Ochiai T. Suzuki Y. Kato T. Shichino H. Chin M. Mugishima H. et al.Natural history of extensive Mongolian spots in MPS2 (Hunter syndrome): a survey among 52 Japanese patients.J Eur Acad Dermatol Venereol. 2007; 21: 1082-1085Crossref PubMed Scopus (24) Google Scholar We wish to emphasize the clinical link between extensive Mongolian spots and lysosomal storage diseases such as Hurler disease, GM1 gangliosidosis, MPSII, and Niemann-Pick disease A. In all cases mentioned here, Mongolian spots are more extensive, colored deep blue, and last for many years, compared with benign Mongolian spots.3Musumeci M.L. Lacarrubba F. Santagati C. Micali G. Multiple and superimposed Mongolian spots.BMJ Case Rep. 2013; 2013PubMed Google Scholar, 4Gupta D. Thappa D.M. Mongolian spots—how important are they?.World J Clin Cases. 2013; 1: 230-232Crossref PubMed Google Scholar The early diagnosis of lysosomal storage diseases is crucial in order to provide early enzyme-replacement therapy to patients as well as genetic counseling to families. Mongolian spots may be key factors for the diagnosis of lysosomal storage diseases and, thus, the identification of extensive, persistent Mongolian spots should prompt further investigation to rule out this kind of disease. We wish to stress the importance of an early accurate diagnosis not only to provide the family options for family planning but also for early therapy when available.